Phenotypes Associated with This Genotype

Genotype
MGI:6283403

• Allelic Composition: Mypn^tm1.1Epu/Mypn^tm1.1Epu
• Genetic Background: involves: 129S6/SvEvTac

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

muscle

abnormal Z line morphology ( J:248575 )

• electron microscopic analysis of skeletal muscles revealed mild Z-line streaming and thickening as well as small nemaline-like bodies adjacent to disorganized Z-lines, unlike in wild-type and heterozygous control mice

myopathy ( J:248575 )

• at 3 months of age, homozygotes exhibit mild nemaline-like myopathy, as suggested by Z-line abnormalities

• however, no muscle weakness is observed at this age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 11		DOID:0110933	OMIM:617336	J:248575